Phenotypes Associated with This Genotype

Genotype
MGI:3822157

• Allelic Composition: Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0; Tg(Tek-cre)12Flv/0
• Genetic Background: involves: C3H * C57BL/6 * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:142212 )

• all mice died by E14.5

embryonic lethality during organogenesis, incomplete penetrance ( J:142212 )

• fewer than expected mice are present at E13.5 and no mice are present after birth

cardiovascular system

conotruncal ridge hyperplasia ( J:142212 )

• outflow tract cushion volume is only increased by 39% compared to in wild-type mice

abnormal atrioventricular cushion morphology ( J:142212 )

• at E13.5, valve primordial has not yet undergone differentiation and extracellular remodeling as in wild-type mice

increased atrioventricular cushion size ( J:142212 )

• cushion volume is increased up to 85% compared to in wild-type mice

double outlet right ventricle ( J:142212 )

• in some mice

ventricular septal defect ( J:142212 )

• in some mice

abnormal cardiovascular system physiology ( J:142212 )

• proliferation of endothelial, mesenchymal, and cardiomyocyte cells is increased compared to in wild-type

• proliferation of cells in the atrioventricular canal cushion endothelial and mesenchymal cell proliferation is increased while apoptosis is decreased compared to in wild-type mice

• however, proliferation of cardiomyocytes in the atrioventricular canal cushion is normal

hemorrhage ( J:142212 )

• at E13.5

ventricular cardiomyopathy ( J:142212 )

• some mice exhibit ventricular noncompaction

embryo

decreased embryo size ( J:142212 )

• at E13.5

growth/size/body

decreased embryo size ( J:142212 )

• at E13.5

nuchal edema ( J:142212 )

• at E13.5

homeostasis/metabolism

edema ( J:142212 )

• at E13.5, mice exhibit nuchal and back edema

nuchal edema ( J:142212 )

• at E13.5

liver/biliary system

hepatic necrosis ( J:142212 )

small liver ( J:142212 )

• at E13.5

muscle

ventricular cardiomyopathy ( J:142212 )

• some mice exhibit ventricular noncompaction

integument

nuchal edema ( J:142212 )

• at E13.5

cellular

hepatic necrosis ( J:142212 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome 1		DOID:0060578	OMIM:163950	J:142212